rs1057518897

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	5	Polycystic Kidney Disease (predicted)
(G;G)	0	common in clinvar

Make rs1057518897(A;A)

Reference

GRCh38.p7 38.3/150

Chromosome

16

Position

2103746

Gene

PKD1

is a	snp
is	mentioned by
dbSNP	rs1057518897
dbSNP (classic)	rs1057518897
ClinGen	rs1057518897
ebi	rs1057518897
HLI	rs1057518897
Exac	rs1057518897
Gnomad	rs1057518897
Varsome	rs1057518897
LitVar	rs1057518897
Map	rs1057518897
PheGenI	rs1057518897
Biobank	rs1057518897
1000 genomes	rs1057518897
hgdp	rs1057518897
ensembl	rs1057518897
geneview	rs1057518897
scholar	rs1057518897
google	rs1057518897
pharmgkb	rs1057518897
gwascentral	rs1057518897
openSNP	rs1057518897
23andMe	rs1057518897
SNPshot	rs1057518897
SNPdbe	rs1057518897
MSV3d	rs1057518897
GWAS Ctlg	rs1057518897

Max Magnitude

5

c.8311G>A (p.Glu2771Lys)

The variant allele of this SNP is considered either "definitely pathogenic" or "highly likely pathogenic" for autosomal dominant polycystic kidney disease in the PKD Foundation database. In ClinVar, it is listed as pathogenic for hypertension and multiple renal cysts.

ClinVar
Risk	rs1057518897(A;A)
Alt	rs1057518897(A;A)
Reference	Rs1057518897(G;G)
Significance	Pathogenic
Disease	Hypertension Multiple renal cysts
Variation	info
Gene	PKD1
CLNDBN	Hypertension Multiple renal cysts
Reversed	1
HGVS	NC_000016.9:g.2153747C>T
CLNSRC
CLNACC	RCV000415041.1,